BIRC4 Mutation: An Important Rare Cause of Uveitis.

TitleBIRC4 Mutation: An Important Rare Cause of Uveitis.
Publication TypeJournal Article
Year of Publication2015
AuthorsBasiaga ML, Weiss PF, Behrens EM
JournalJ Clin Rheumatol
Volume21
Issue8
Pagination444-7
Date Published2015 Dec
ISSN1536-7355
Abstract

We report a 6-year-old man with chronic severe recalcitrant bilateral anterior uveitis and a remote history of hemophagocytic lymphocytic histiocytosis secondary to Epstein-Barr virus infection. The patient was treated for idiopathic uveitis after an initial extensive evaluation failed to reveal a specific diagnosis. The patient failed to achieve sustained inactive disease with multiple monotherapies including topical glucocorticoid, methotrexate, infliximab, mycophenolate mofeti, and cyclosporine. Disease control was finally attained with a combination of cyclosporine and adalimumab. After more recent testing, he was found to have a novel deletion on the BIRC4 (baclovirus inhibitor of apoptosis repeat containing protein 4) gene, the causative gene for X-linked lymphoproliferative syndrome type 2. We conclude that male patients with chronic idiopathic uveitis should be questioned about a history of hemophagocytic lymphocytic histiocytosis during their workup and screened for BIRC4 mutation if appropriate.

DOI10.1097/RHU.0000000000000327
Alternate JournalJ Clin Rheumatol
PubMed ID26513308
PubMed Central IDPMC4654974
Grant ListT32 GM075766 / GM / NIGMS NIH HHS / United States